. Author manuscript; available in PMC: 2018 May 10.

Published in final edited form as: Prenat Diagn. 2017 Jul 25;37(9):938–939. doi: 10.1002/pd.5105

Table 1.

Cases of women with false positive cfDNA and outcomes

Case	Age/gravidity and parity	cfDNA technique	cfDNA result	CVS (result)	Amnio (result)	US (results)	GA at preX dx	GA at delivery	Pregnancy complications	Birth weight
1	35G2P0101	MPS	Aneuploidy suspected (borderline NCV value for chromosome 13)	Yes—47, XX+13[3]/46, XX[27]^a	Yes—46, XX	Normal	33/5	34/0 SVD	Severe PreX	8 lbs 6 oz
2	36G1	MPS	Results consistent with trisomy for chromosome 13	No	Yes 46, XY	Normal	36/6	37/0 LTCS	PreX	6 lbs 12 oz
3	37G6P2032	Targeted microarray	Aneuploidy detected for chromosome 13	No	Yes, nl FISH^b and CMA	Normal	Postop day 1	39/0 LTCS	PreX	8 lbs
4	35G4P2012	MPS	Aneuploidy suspected (borderline NCV value for chromosome 13)	No	No	Normal	38/4	38/4 LTCS	gHTN	7 lbs 8 oz
5	37G1	MPS	Indeterminate for chromosome 13^c	No	Yes—nl FISH^b and CMA	Normal	Moved out of country at 33 wks
6	35G1	MPS	Aneuploidy suspected (borderline NCV value for 13)	No	No	Normal	None	40 2/7LTCS	None	7 lbs 3 oz

cfDNA, cell-free DNA; MPS, massive parallel sequencing; NCV, normalized chromosome value; FISH, fluorescence in situ hybridization; CVS, chorionic villus sampling; Amnio, amniocentesis; US, ultrasound; GA, gestational age; preX, preeclampsia; dx, diagnosis; CMA, chromosome microarray analysis; wks, weeks; gHTN, gestational hypertension; SVD, spontaneous vaginal delivery; LTCS, low transverse cesarean delivery; BP, blood pressure; lbs, pounds; oz, ounce.

Both euploid and trisomic cells were observed in two independent cultures using cell-type LTC (mesenchyme).

All FISH were carried out using interphase in situ hybridization.

The report reads: This result is likely caused by a segmental duplication or mosaic trisomy of the fetus or placenta. Copy number variant detection by microarray testing is recommended of the fetus to investigate these findings.